ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His)

dbSNP: rs2090674561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215873 SCV001387640 likely pathogenic Pigmentary pallidal degeneration 2023-03-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PANK2 protein function. ClinVar contains an entry for this variant (Variation ID: 945272). This missense change has been observed in individual(s) with clinical features of PANK2-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 556 of the PANK2 protein (p.Tyr556His).

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